Linked Data
gnomAD v4:
1-204190407-C-CGGGGGGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190408_204190409insGGGGGGGGGGGGGGGGGGGGGGGG , CM000663.2:g.204190408_204190409insGGGGGGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000001.10:g.204159536_204159537insGGGGGGGGGGGGGGGGGGGGGGGG , CM000663.1:g.204159536_204159537insGGGGGGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000001.9:g.202426159_202426160insGGGGGGGGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_032151.1:g.11084_11085insCCCCCCCCCCCCCCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | ENSP00000356162.4:n.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | |
| ENST00000367194.4:c.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000356162.4:n.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | |
| NM_002256.3:c.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | NP_002247.3:n.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_011509525.1:c.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | XP_011507827.1:n.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC | |
| NM_002256.4:c.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | NP_002247.3:n.*76_*77insCCCCCCCCCCCCCCCCCCCCCCCC |